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78 积分 2022-03-03 加入
Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1
2天前
已完结
Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1
2天前
已完结
Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study
3天前
已完结
Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection
6天前
已完结
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
6天前
已完结
The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study
8天前
已关闭
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century
9天前
已完结
Copy number variations in SPAST and ATL1 are rare among Brazilians
9天前
已完结
Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies
13天前
已完结
Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex
26天前
已完结
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